1. can you introduce yourself?

My name is Paul Coucke . I am a professor at the University of Ghent in the Department of medical genetics where I am responsible for the connective tissue laboratory. I supervise Diagnostics in laboratories, that is, samples sent to us for diagnostic reasons, and I also supervise research in the laboratory where we do research on tissue damage Marfan syndrome is a part of the conjunctive disorder.

2. can you explain the project 101 genomes Marfan?

The objective of P101GM is to make phenotype-genotype correlations. This means that, now that the genome is increasingly accessible due to the development of sequencing technology, it is interesting to seek to correlate the changes in genes found in this genome with the phenotypic expressions in patients. This would explain why some patients are taller, why they have a characteristic ocular problem, why they have abnormalities or aortic abnormalities. Establishing correlations between these anomalies and the variations found in the genomes is very difficult. At the moment, it is starting to be possible to do this kind of analysis, which was not possible five or even three years ago. This is a great challenge within the P101GM.

3. Why did you agree to be part of the Scientific Committee of project 101 genomes Marfan?

I have been working in genetic research for more than 30 years now. I started in 1985. I have always been involved in genetics and have witnessed its evolution. Over the past five years, it has become extremely interesting because, as I mentioned, the evolution of Genomic sequencing. It is a technological revolution and the costs of sequencing have decreased considerably, allowing access to genomic data. The intention of P101GM is to use this genome in correlation with the phenotypic characteristics of Marfan patients. I believe very much in this approach and I think this project is very exciting.

4. as a scientist, what do you expect from project 101 genomes Marfan?

It is very difficult to know what is going to be the outcome of this research, however, its strong point is that it brings together scientists. Most scientists work in their Department and laboratories in good facilities, but everyone in their area. Communication between departments or universities takes place only at meetings. In reality, it is together, discussing how we should proceed and bringing together patients and patient data that we need to work on. But it is not so common in research centres and it should be more. This is the advantage of P101GM: the founders try to consolidate as many scientists as possible. There is a competent group that comes from Antwerp, another very specialized who comes from Ghent and also a group of highly recognized scientists from Paris. Outside the P101GM, we have contacts between us, but these are just contacts. Here we have the means to Exchange, to discuss, to set up a collaboration, to continue the work in order to improve the research.

5. What is the key element for you that makes the project 101 genomes Marfan important for Marfan patients? And for other rare diseases?

The technical evolution of the sequencing which makes possible things that have never been possible before. That's the key. And also, the collaboration : we can work alone in our own laboratory and we do, but we are much stronger when we act as a group and unite our strengths. These are the two strengths of this project.

teacher Paul Coucke Phd
Center for medical genetics, University of Ghent and Ghent University Hospital, Ghent, Belgium